LUMCi045-A-1

iso01LUMC0145iKLHL01

General#

Cell Line

hPSCreg Name
LUMCi045-A-1
Alternative name(s)
iso01LUMC0145iKLHL01
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 3rd May 2021
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Provider

Generator Leiden University Medical Center (LUMC)
Owner LUMC hiPSC core facility
Distributors
Derivation country Netherlands

External Databases

BioSamples SAMEA8868395
Cellosaurus CVCL_A7RY
Wikidata Q107115881
CLO CLO_0103636

General Information

Publications
* Is the cell line readily obtainable for third parties?
Yes
Research: allowed
Additional restrictions:

under MTA request addressed to Karine Raymond

Subclone of

Donor Information#

General Donor Information

Sex male
Ethnicity Hispanic, Chilean

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Intermediate epidermolysis bullosa simplex with cardiomyopathy
Epidermolysis Bullosa Simplex intermediate with Cardiomyopathy
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Intermediate EBS with cardiomyopathy
Family history patient 14 in Schwieger-Briel et al., 2018 (10.1016/j.jid.2018.07.022)

Karyotyping (Donor)

Has the donor karyotype been analysed?
No

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
No

External Databases (Donor)

BioSamples SAMEA8868390

Ethics#

Also have a look at the ethics information for the parental line LUMCi045-A .
Is there an MTA available for the cell line? No
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used? Integrated DNA Technologies (IDT)
Are you aware of any constraints on the use or distribution of the cell line from the owner or any parties identified in the query above? No

hIPSC Derivation#

General

The source cell information can be found in the parental cell line LUMCi045-A.

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Is reprogramming vector detectable?
No
Methods used
RT-PCR

Vector free reprogramming

Other

Derived under xeno-free conditions
Unknown
Derived under GMP?
Unknown
Available as clinical grade?
Unknown

Culture Conditions#

Surface coating Vitronectin
Feeder cells
No
Passage method Enzyme-free cell dissociation
Gentle Cell Dissociation Reagent
O2 Concentration 20 %
CO2 Concentration 5 %
Medium TeSR™ E8™
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?
Yes
Has Rock inhibitor (Y27632) been used at cryo previously with this cell line?
No
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?
Yes

Characterisation#

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR FACS Enzymatic Assay Expression Profiles
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Marker Expressed
alpha fetoprotein (AFP)
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro spontaneous differentiation
Marker Expressed
PECAM1(CD31)
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro spontaneous differentiation
Marker Expressed
beta-III tubulin
Yes

Microbiology / Virus Screening

Mycoplasma Negative

Genotyping#

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46,XY[20]
Passage number: 21
Karyotyping method: G-Banding

Other Genotyping (Cell Line)

Genetic Modification#

Disease/phenotype related modifications
Epidermolysis Bullosa Simplex intermediate with Cardiomyopathy
Genetic modifications
klhl24 (target)
Isogenic modification
3q27
NM_017644.3:c.2 G>T; c.6 A>C
NP_001336342:p.(Arg1Met)
Heterozygous
Heterozygous mutation KLHL24 NM_017644.3:c.2 T>G of donor (LUMC045-A) has been 'normalized' and silent mutation added in order to create AvaII site used for screening of 'normalized' clones: corrected Heterozygous KLHL24 NM_017644.3:c.2 G>T; c.6 A>C (LUMCi045-A-1)
Repaired